Variant Results

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

AU3997302

chr8:
43831761-43831761

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0169-004

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0272-003

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0402-004

chr8:
43620746-43620746

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0196-005

chr8:
43232033-43232033

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0533-003

chr8:
43687641-43687641

T

G

intergenic

De novo

-

Yuen2017 G

POTEA

2-1384-003

chr8:
43702983-43702989

AAAGAAG

AAAG

intergenic

De novo

-

Yuen2017 G

POTEA

1-0751-003

chr8:
43299305-43299305

T

C

intergenic

De novo

-

Yuen2017 G

POTEA

AU3905302

chr8:
43459771-43459771

T

G

intergenic

De novo

-

Yuen2017 G

POTEA

A26

chr8:
43550765-43550765

T

C

intergenic

De novo

-

Wu2018 G

POTEA

AU2458303

chr8:
43453922-43453922

A

G

intergenic

De novo

-

Yuen2017 G

POTEA

NDAR_INVYG798UD0_wes1

chr8:
43152256-43152256

A

G

exonic

De novo

synonymous SNV

NM_001002920
NM_001005365

c.A393G
c.A393G

p.K131K
p.K131K

-

Kosmicki2017 E
Satterstrom2020 E

POTEA

AU4154303

chr8:
43796257-43796257

C

T

intergenic

De novo

-

Yuen2017 G

POTEA

2-0310-004

chr8:
43687664-43687664

A

T

intergenic

De novo

-

Yuen2017 G

POTEA

AU060004

chr8:
43499903-43499903

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

5-0025-003

chr8:
43646959-43646959

C

T

intergenic

De novo

-

Yuen2017 G

POTEA

AU4173301

chr8:
43602969-43602969

C

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0567-003

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

2-0122-004

chr8:
43146882-43146882

C

T

upstream

De novo

-

Yuen2017 G

POTEA

5-0030-003

chr8:
43707379-43707379

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

7-0254-003

chr8:
43621158-43621158

A

G

intergenic

De novo

-

Yuen2017 G

POTEA

1-0524-003

chr8:
43390330-43390330

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

POTEA

2-0198-005

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0233-004

chr8:
43687664-43687664

A

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0162-004

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

AU2569303

chr8:
43166170-43166170

C

T

intronic

De novo

-

Yuen2017 G

POTEA

1-0447-003

chr8:
43633779-43633779

A

G

intergenic

De novo

-

Yuen2017 G

POTEA

1-0125-003

chr8:
43706300-43706300

T

C

intergenic

De novo

-

Yuen2017 G

POTEA

1-0323-003

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0447-003

chr8:
43633354-43633354

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

2-0068-003

chr8:
43710361-43710361

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0299-004

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

2-1168-003

chr8:
43823930-43823930

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0299-004

chr8:
43645997-43645997

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0447-003

chr8:
43633906-43633906

C

G

intergenic

De novo

-

Yuen2017 G

POTEA

1-0496-003

chr8:
43690217-43690217

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

POTEA

AU079104

chr8:
43727841-43727841

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

5-0131-003

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0455-004

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

2-1429-003

chr8:
43571912-43571912

A

AACCTTCCTTTAGACAGT

intergenic

De novo

-

Yuen2017 G

POTEA

5-0131-003

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

2-0289-004

chr8:
43710888-43710888

A

G

intergenic

De novo

-

Yuen2017 G

POTEA

2-1415-004

chr8:
43511972-43511973

CT

C

intergenic

De novo

-

Yuen2017 G

POTEA

1-0665-003

chr8:
43687664-43687664

A

T

intergenic

De novo

-

Yuen2017 G

POTEA

7-0082-003

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

2-1222-003

chr8:
43821604-43821604

A

G

intergenic

De novo

-

Yuen2017 G

POTEA

AU1940304

chr8:
43447193-43447193

A

G

intergenic

De novo

-

Yuen2017 G

POTEA

2-0145-003

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

5-0041-003

chr8:
43749303-43749303

A

C

intergenic

De novo

-

Yuen2017 G

POTEA

AU2089302

chr8:
43326185-43326185

C

T

intergenic

De novo

-

Yuen2017 G

POTEA

5-0046-003

chr8:
43610333-43610333

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0253-005

chr8:
43520465-43520465

C

G

intergenic

De novo

-

Yuen2017 G

POTEA

7-0130-003

chr8:
43432056-43432058

AAT

A

intergenic

De novo

-

Yuen2017 G

POTEA

2-1431-003

chr8:
43334203-43334203

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

POTEA

5-0116-003

chr8:
43593388-43593388

A

G

intergenic

De novo

-

Yuen2017 G

POTEA

2-0300-004

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0414-005

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

AU2022302

chr8:
43709300-43709300

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

AU4485302

chr8:
43804324-43804324

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

5-0065-003

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

5-0055-004

chr8:
43511945-43511945

T

G

intergenic

De novo

-

Yuen2017 G

POTEA

2-1722-003

chr8:
43721130-43721130

T

G

intergenic

De novo

-

Yuen2017 G

POTEA

AU3398301

chr8:
43756712-43756712

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0567-004

chr8:
43626429-43626429

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

2-1605-003

chr8:
43710352-43710352

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

5-0018-003

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0126-003

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

AU2075302

chr8:
43565181-43565181

A

G

intergenic

De novo

-

Yuen2017 G

POTEA

AU3859301

chr8:
43271769-43271769

A

G

intergenic

De novo

-

Yuen2017 G

POTEA

AU4056301

chr8:
43587229-43587229

C

T

intergenic

De novo

-

Yuen2017 G

POTEA

AU4056301

chr8:
43589976-43589976

G

C

intergenic

De novo

-

Yuen2017 G

POTEA

2-1206-003

chr8:
43486692-43486692

C

T

intergenic

De novo

-

Yuen2017 G

POTEA

AU4056301

chr8:
43592238-43592238

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0201-004

chr8:
43463113-43463113

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0763-004

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

AU076509

chr8:
43256887-43256887

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

AU3874301

chr8:
43510397-43510397

T

C

intergenic

De novo

-

Yuen2017 G

POTEA

AU3997301

chr8:
43831761-43831761

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0435-003

chr8:
43418415-43418415

C

T

intergenic

De novo

-

Yuen2017 G

POTEA

5-0033-004

chr8:
43520481-43520481

T

C

intergenic

De novo

-

Yuen2017 G

POTEA

AU076509

chr8:
43256836-43256836

A

G

intergenic

De novo

-

Yuen2017 G

POTEA

AU2437302

chr8:
43734933-43734933

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

AU3728301

chr8:
43346519-43346519

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0382-004

chr8:
43687641-43687641

T

G

intergenic

De novo

-

Yuen2017 G

POTEA

2-0088-003

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

2-1327-004

chr8:
43432076-43432076

A

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0406-003

chr8:
43710361-43710361

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0551-003

chr8:
43453173-43453173

T

G

intergenic

De novo

-

Yuen2017 G

POTEA

2-0132-004

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

3-0209-000

chr8:
43353362-43353362

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

2-1620-004

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0323-004

chr8:
43659779-43659779

C

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0551-003

chr8:
43520194-43520194

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

5-0111-003

chr8:
43338491-43338491

G

C

intergenic

De novo

-

Yuen2017 G

POTEA

1-0215-006

chr8:
43286143-43286151

CCTCTCTCT

CCTCTCT

intergenic

De novo

-

Yuen2017 G

POTEA

1-0173-004

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

AU4235301

chr8:
43422558-43422558

C

T

intergenic

De novo

-

Yuen2017 G

POTEA

7-0191-003

chr8:
43656251-43656263

ACATTTCGGAGCC

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0720-003

chr8:
43733897-43733897

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

AU3646301

chr8:
43477251-43477251

C

T

intergenic

De novo

-

Yuen2017 G

POTEA

2-1094-005

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

2-0242-004

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

AU4235301

chr8:
43600175-43600175

A

C

intergenic

De novo

-

Yuen2017 G

POTEA

1-0257-003

chr8:
43507405-43507405

A

G

intergenic

De novo

-

Yuen2017 G

POTEA

1-0497-003

chr8:
43194341-43194341

C

T

intronic

De novo

-

Yuen2017 G

POTEA

7-0100-003

chr8:
43430588-43430588

A

G

intergenic

De novo

-

Yuen2017 G

POTEA

2-0214-004

chr8:
43646964-43646964

C

A

intergenic

De novo

-

Yuen2017 G

POTEA

3-0111-000

chr8:
43157164-43157164

T

C

exonic

De novo

synonymous SNV

NM_001005365

c.T744C

p.S248S

-

Tammimies2015 E

POTEA

5-0004-003

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0514-003

chr8:
43836760-43836760

A

C

intergenic

De novo

-

Yuen2017 G

POTEA

2-1567-003

chr8:
43710863-43710863

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

AU060703

chr8:
43300709-43300709

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

2-1456-003

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0032-003

chr8:
43457198-43457198

C

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0299-003

chr8:
43530745-43530745

C

G

intergenic

De novo

-

Yuen2017 G

POTEA

AU048206

chr8:
43552978-43552978

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

AU3858302

chr8:
43171369-43171369

A

G

intronic

De novo

-

Yuen2017 G

POTEA

1-0158-012

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0455-003

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0455-003

chr8:
43709911-43709911

T

TCTGC

intergenic

De novo

-

Yuen2017 G

POTEA

1-0885-003

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

AU3154302

chr8:
43760508-43760508

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0104-004

chr8:
43630801-43630801

G

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0446-003

chr8:
43406473-43406473

T

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0652-003

chr8:
43462226-43462226

C

A

intergenic

De novo

-

Yuen2017 G

POTEA

1-0104-004

G

T

intergenic

De novo

-

Yuen2017 G

POTEA

1-0568-003

chr8:
43709911-43709911

T

TCTGC

intergenic

De novo

-

Yuen2017 G

POTEA

2-1619-004